Variant report

Variant	esv3409662
Chromosome Location	chr21:46492949-46495497
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:545)
CpG islands
(count:611)
Chromatin interactive
region (count:73)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:545 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr21:46493354-46493814	K562	blood:	n/a	n/a
2	ARID3A	chr21:46493453-46493650	HepG2	liver:	n/a	n/a
3	BACH1	chr21:46494121-46494391	K562	blood:	n/a	n/a
4	BACH1	chr21:46494113-46495614	H1-hESC	embryonic stem cell:	n/a	n/a
5	BCL11A	chr21:46493987-46494414	GM12878	blood:	n/a	chr21:46494282-46494295 chr21:46494353-46494366 chr21:46494207-46494220
6	BCL11A	chr21:46493950-46494241	GM12878	blood:	n/a	chr21:46494207-46494220
7	BCL3	chr21:46494511-46495183	K562	blood:	n/a	chr21:46494993-46495006 chr21:46494989-46495002 chr21:46494938-46494951 chr21:46494830-46494839 chr21:46494988-46495001
8	BCL3	chr21:46493640-46494414	K562	blood:	n/a	chr21:46494282-46494295 chr21:46494353-46494366 chr21:46494207-46494220
9	BCL3	chr21:46493435-46495331	K562	blood:	n/a	chr21:46494282-46494295 chr21:46494993-46495006 chr21:46494353-46494366 chr21:46494989-46495002 chr21:46494938-46494951 chr21:46494830-46494839 chr21:46494988-46495001 chr21:46494207-46494220
10	BCLAF1	chr21:46493444-46494093	K562	blood:	n/a	n/a
11	BCLAF1	chr21:46493450-46494317	K562	blood:	n/a	chr21:46494282-46494295 chr21:46494207-46494220
12	BHLHE40	chr21:46493364-46494410	K562	blood:	n/a	chr21:46493432-46493448 chr21:46493397-46493413
13	BHLHE40	chr21:46494035-46494271	HepG2	liver:	n/a	n/a
14	BHLHE40	chr21:46494036-46494443	GM12878	blood:	n/a	n/a
15	BRCA1	chr21:46494054-46494313	HepG2	liver:	n/a	n/a
16	CBX3	chr21:46493338-46493884	K562	blood:	n/a	n/a
17	CCNT2	chr21:46492880-46495557	K562	blood:	n/a	n/a
18	CEBPB	chr21:46493373-46493892	K562	blood:	n/a	n/a
19	CEBPB	chr21:46493462-46493677	IMR90	lung:	n/a	n/a
20	CEBPB	chr21:46493461-46493741	K562	blood:	n/a	n/a
21	CEBPB	chr21:46493170-46493926	MCF-7	breast:	n/a	n/a
22	CEBPB	chr21:46493230-46493845	MCF-7	breast:	n/a	n/a
23	CEBPD	chr21:46493624-46495183	HepG2	liver:	n/a	n/a
24	CEBPD	chr21:46493246-46495249	K562	blood:	n/a	n/a
25	CEBPD	chr21:46493291-46494448	K562	blood:	n/a	n/a
26	CEBPD	chr21:46493939-46494434	HepG2	liver:	n/a	n/a
27	CEBPD	chr21:46493677-46493891	HepG2	liver:	n/a	n/a
28	CHD1	chr21:46494866-46494915	GM12878	blood:	n/a	n/a
29	CHD1	chr21:46494141-46494332	GM12878	blood:	n/a	n/a
30	CHD1	chr21:46493137-46497321	IMR90	lung:	n/a	n/a
31	CHD1	chr21:46495102-46495228	H1-hESC	embryonic stem cell:	n/a	n/a
32	CHD2	chr21:46494950-46495387	K562	blood:	n/a	n/a
33	CHD2	chr21:46494060-46494231	H1-hESC	embryonic stem cell:	n/a	n/a
34	CHD2	chr21:46495062-46495393	Hela-S3	cervix:	n/a	n/a
35	CHD2	chr21:46493646-46494239	HepG2	liver:	n/a	n/a
36	CHD2	chr21:46495051-46495240	HepG2	liver:	n/a	n/a
37	CHD2	chr21:46493766-46494590	Hela-S3	cervix:	n/a	n/a
38	CHD2	chr21:46493723-46494288	GM12878	blood:	n/a	n/a
39	CHD2	chr21:46495147-46495335	GM12878	blood:	n/a	n/a
40	CHD2	chr21:46493273-46494340	K562	blood:	n/a	n/a
41	CREB1	chr21:46493983-46494586	H1-hESC	embryonic stem cell:	n/a	n/a
42	CREB1	chr21:46493606-46494539	K562	blood:	n/a	n/a
43	CREB1	chr21:46493295-46494593	HepG2	liver:	n/a	n/a
44	CREB1	chr21:46493482-46494479	K562	blood:	n/a	n/a
45	CREB1	chr21:46493985-46494470	A549	lung:	n/a	n/a
46	CTBP2	chr21:46494741-46495518	H1-hESC	embryonic stem cell:	n/a	n/a
47	CTCF	chr21:46495304-46495370	NHEK	skin:	n/a	n/a
48	CTCF	chr21:46495140-46495290	GM12874	blood:	n/a	n/a
49	CTCF	chr21:46495227-46495246	MCF-7	breast:	n/a	n/a
50	CTCF	chr21:46494960-46495110	SK-N-SH_RA	brain:	n/a	n/a

(count:611 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr21:46494274-46494324	ECC-1	luminal epithelium:	n/a
2	chr21:46494274-46494324	ECC-1	luminal epithelium:	n/a
3	chr21:46493345-46493395	ECC-1	luminal epithelium:	n/a
4	chr21:46494823-46494873	NB4	blood:	n/a
5	chr21:46494274-46494324	HEK293	kidney:	embryo
6	chr21:46494274-46494324	Caco-2	colon:	n/a
7	chr21:46493345-46493395	MCF-7	breast:	n/a
8	chr21:46493169-46493219	HIPEpiC	eye:	n/a
9	chr21:46493345-46493395	SK-N-SH	brain:	n/a
10	chr21:46493156-46493206	HIPEpiC	eye:	n/a
11	chr21:46493345-46493395	IMR90	lung:	fetal
12	chr21:46493345-46493395	PANC-1	pancreas:	n/a
13	chr21:46493169-46493219	A549	lung:	n/a
14	chr21:46494133-46494183	GM19239	blood:	n/a
15	chr21:46494378-46494428	AG04450	lung:	fetal
16	chr21:46493436-46493486	HepG2	liver:	n/a
17	chr21:46493156-46493206	HUVEC	blood vessel:	n/a
18	chr21:46494133-46494183	HEK293	kidney:	embryo
19	chr21:46494133-46494183	NB4	blood:	n/a
20	chr21:46494133-46494183	HL-60	blood:	n/a
21	chr21:46494823-46494873	U87	brain:	n/a
22	chr21:46494274-46494324	AG04449	skin:	fetal
23	chr21:46493345-46493395	NHDF-neo	bronchial:	n/a
24	chr21:46493156-46493206	HEEpiC	esophagus:	n/a
25	chr21:46493156-46493206	A549	lung:	n/a
26	chr21:46493289-46493339	HEEpiC	esophagus:	n/a
27	chr21:46493436-46493486	HRCEpiC	kidney:	n/a
28	chr21:46493436-46493486	NHBE	bronchial:	n/a
29	chr21:46493436-46493486	RPTEC	kidney:	n/a
30	chr21:46494274-46494324	HL-60	blood:	n/a
31	chr21:46494823-46494873	HUVEC	blood vessel:	n/a
32	chr21:46493345-46493395	HMEC	breast:	n/a
33	chr21:46494823-46494873	SK-N-MC	brain:	n/a
34	chr21:46494274-46494324	GM12892	blood:	n/a
35	chr21:46495389-46495439	HEK293	kidney:	embryo
36	chr21:46494823-46494873	T-47D	breast:	n/a
37	chr21:46493289-46493339	SK-N-MC	brain:	n/a
38	chr21:46494378-46494428	BE2_C	brain:	n/a
39	chr21:46494823-46494873	GM19239	blood:	n/a
40	chr21:46494274-46494324	K562	blood:	n/a
41	chr21:46495389-46495439	PrEC	prostate:	n/a
42	chr21:46494133-46494183	ProgFib	skin:	n/a
43	chr21:46494133-46494183	A549	lung:	n/a
44	chr21:46495389-46495439	HAEpiC	amniotic membrane:	n/a
45	chr21:46494823-46494873	BJ	skin:	n/a
46	chr21:46493156-46493206	H1-hESC	embryonic stem cell:	embryo
47	chr21:46494823-46494873	AG09319	gingival:	n/a
48	chr21:46493436-46493486	NHDF-neo	bronchial:	n/a
49	chr21:46495389-46495439	SK-N-MC	brain:	n/a
50	chr21:46493156-46493206	AG10803	skin:	n/a

(count:73 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr21:46330635..46333372-chr21:46493231..46495849,2	K562	blood:
2	chr21:46493165..46495720-chr21:46513762..46518212,6	MCF-7	breast:
3	chr21:46231904..46241990-chr21:46492035..46500735,28	K562	blood:
4	chr21:46495410..46497788-chr21:46536429..46538983,2	K562	blood:
5	chr21:46493349..46495379-chr3:49062380..49065165,2	K562	blood:
6	chr21:46492507..46498258-chr21:46706665..46711571,8	K562	blood:
7	chr21:46494805..46496748-chr21:46849949..46852672,3	K562	blood:
8	chr21:46494846..46497722-chr21:46974690..46977147,2	K562	blood:
9	chr21:46494154..46496164-chr21:46707875..46710753,3	K562	blood:
10	chr2:24582248..24583193-chr21:46494319..46495179,2	Hela-S3	cervix:
11	chr15:83679404..83681095-chr21:46492672..46494798,2	MCF-7	breast:
12	chr21:46492324..46495855-chr21:46960806..46963103,3	K562	blood:
13	chr10:11207101..11207808-chr21:46493910..46494568,2	NB4	blood:
14	chr21:46493052..46496413-chr21:46547928..46550318,5	MCF-7	breast:
15	chr21:46292697..46294233-chr21:46492293..46494359,2	K562	blood:
16	chr1:115300107..115301819-chr21:46494563..46496100,2	K562	blood:
17	chr11:65663723..65666241-chr21:46495274..46498090,2	K562	blood:
18	chr21:46493821..46495801-chr21:46704505..46706122,2	K562	blood:
19	chr1:21112741..21113311-chr21:46495175..46495793,2	Hela-S3	cervix:
20	chr21:44393563..44395189-chr21:46493572..46495769,2	K562	blood:
21	chr21:46494891..46496808-chr21:46543893..46546977,3	K562	blood:
22	chr21:46492248..46501057-chr21:46545477..46562980,48	K562	blood:
23	chr21:46493459..46495038-chr21:46842304..46845203,2	MCF-7	breast:
24	chr21:46348334..46352514-chr21:46492914..46497675,5	K562	blood:
25	chr1:16840594..16842106-chr21:46494370..46496112,2	K562	blood:
26	chr21:46493210..46496355-chr21:46960101..46962644,7	K562	blood:
27	chr21:46474464..46475039-chr21:46493072..46493764,2	MCF-7	breast:
28	chr21:46354394..46357381-chr21:46492511..46494330,2	MCF-7	breast:
29	chr21:46363747..46379047-chr21:46484156..46498795,67	K562	blood:
30	chr21:46493837..46495534-chr21:46954524..46956701,2	K562	blood:
31	chr19:40336793..40337645-chr21:46493997..46494626,2	HCT-116	colon:
32	chr21:46493305..46495041-chr21:46533530..46536007,3	K562	blood:
33	chr21:46329082..46330961-chr21:46492504..46494830,2	MCF-7	breast:
34	chr21:46493459..46496695-chr21:46925543..46928917,3	K562	blood:
35	chr17:73775438..73776361-chr21:46493887..46494850,2	NB4	blood:
36	chr21:46398654..46417262-chr21:46491498..46498908,48	K562	blood:
37	chr21:46411461..46416034-chr21:46491875..46495276,6	MCF-7	breast:
38	chr21:46231513..46241255-chr21:46492035..46497390,26	K562	blood:
39	chr21:46328608..46330967-chr21:46493545..46495065,2	K562	blood:
40	chr21:46345821..46352717-chr21:46492682..46495835,7	MCF-7	breast:
41	chr21:46493904..46495468-chr21:46952040..46954795,2	K562	blood:
42	chr21:46491911..46497737-chr21:46547142..46552694,13	K562	blood:
43	chr14:31495841..31497461-chr21:46493757..46496010,2	K562	blood:
44	chr21:46235651..46239241-chr21:46493223..46495632,4	MCF-7	breast:
45	chr21:46493097..46497182-chr21:46538705..46543454,4	MCF-7	breast:
46	chr21:46387463..46395588-chr21:46492597..46498092,12	K562	blood:
47	chr21:46495351..46497648-chr21:46516468..46519256,2	MCF-7	breast:
48	chr21:46292272..46294074-chr21:46492667..46495373,2	MCF-7	breast:
49	chr21:46493602..46496021-chr6:27113430..27116414,2	K562	blood:
50	chr21:46494888..46496545-chr21:46914062..46916067,2	K562	blood:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C21orf67-11	chr21:46490871-46493126	NONHSAT082913
2	lnc-C21orf67-11	chr21:46490870-46493126	NR_027292

No data

Variant related genes	Relation type
ADARB1	TF binding region
SSR4P1	TF binding region
ENSG00000268856	TF binding region
ADARB1	CpG island
SSR4P1	CpG island
ENSG00000268856	CpG island
ENSG00000272825	chromatin interactions
ENSG00000184825	chromatin interactions
ENSG00000183250	chromatin interactions
ENSG00000132475	chromatin interactions
ENSG00000267857	chromatin interactions
ENSG00000198399	chromatin interactions
ENSG00000184900	chromatin interactions
ENSG00000183255	chromatin interactions
ENSG00000048740	chromatin interactions
ENSG00000183535	chromatin interactions
ENSG00000241945	chromatin interactions
ENSG00000234880	chromatin interactions
ENSG00000197381	chromatin interactions
ENSG00000261706	chromatin interactions
ENSG00000105202	chromatin interactions
ENSG00000160255	chromatin interactions
ENSG00000236519	chromatin interactions
ENSG00000215447	chromatin interactions
ENSG00000100478	chromatin interactions
ENSG00000250802	chromatin interactions
ENSG00000265565	chromatin interactions
ENSG00000173638	chromatin interactions
ENSG00000268805	chromatin interactions
ENSG00000132846	chromatin interactions
ENSG00000186866	chromatin interactions
ENSG00000127483	chromatin interactions
ENSG00000160221	chromatin interactions
ENSG00000128050	chromatin interactions
ENSG00000169609	chromatin interactions
ENSG00000232969	chromatin interactions
ENSG00000160199	chromatin interactions
ENSG00000160256	chromatin interactions
ENSG00000112242	chromatin interactions
ENSG00000182871	chromatin interactions
ENSG00000184787	chromatin interactions
ENSG00000273027	chromatin interactions
ENSG00000261135	chromatin interactions
ENSG00000206652	chromatin interactions
ENSG00000224930	chromatin interactions
ENSG00000178035	chromatin interactions
ENSG00000160226	chromatin interactions
ENSG00000197903	chromatin interactions
ENSG00000009307	chromatin interactions

Extended variants
information (count: 102 )
Associated
traits (count: 99 )

Variant overlapped rSNPs/rCNVs (count:102 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs915814	chr21:46493003-46493004	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS	TF binding region Chromatin interactive region lncRNA	24 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs543566160	chr21:46493017-46493018	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS	TF binding region Chromatin interactive region lncRNA	24 gene(s)	Overlapped CNVs	n/a
3	rs112113119	chr21:46493076-46493077	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS	TF binding region Chromatin interactive region lncRNA	24 gene(s)	Overlapped CNVs	n/a
4	rs530071304	chr21:46493120-46493121	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS	TF binding region Chromatin interactive region lncRNA	24 gene(s)	Overlapped CNVs	n/a
5	rs28760601	chr21:46493123-46493124	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS	TF binding region Chromatin interactive region lncRNA	24 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs57550246	chr21:46493157-46493158	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region	24 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs534101654	chr21:46493165-46493166	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region	25 gene(s)	Overlapped CNVs	n/a
8	rs116214745	chr21:46493207-46493208	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	25 gene(s)	Overlapped CNVs	n/a
9	rs370232464	chr21:46493270-46493271	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	25 gene(s)	Overlapped CNVs	n/a
10	rs375030923	chr21:46493286-46493287	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	25 gene(s)	Overlapped CNVs	n/a
11	rs527576199	chr21:46493292-46493293	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	25 gene(s)	Overlapped CNVs	n/a
12	rs142287788	chr21:46493293-46493294	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	25 gene(s)	Overlapped CNVs	n/a
13	rs570572684	chr21:46493408-46493409	Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	28 gene(s)	Overlapped CNVs	n/a
14	rs386819263	chr21:46493432-46493433	Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	28 gene(s)	Overlapped CNVs	n/a
15	rs78428067	chr21:46493433-46493434	Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	28 gene(s)	Overlapped CNVs	n/a
16	rs568134773	chr21:46493446-46493447	Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	28 gene(s)	Overlapped CNVs	n/a
17	rs535146093	chr21:46493465-46493466	Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	30 gene(s)	Overlapped CNVs	n/a
18	rs553801094	chr21:46493540-46493541	Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	30 gene(s)	Overlapped CNVs	n/a
19	rs13049162	chr21:46493617-46493618	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	35 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs11575902	chr21:46493623-46493624	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	35 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs550137614	chr21:46493635-46493636	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	35 gene(s)	Overlapped CNVs	n/a
22	rs435198	chr21:46493657-46493658	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	36 gene(s)	Overlapped CNVs	n/a
23	rs555874756	chr21:46493676-46493677	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	36 gene(s)	Overlapped CNVs	n/a
24	rs568858321	chr21:46493677-46493678	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	36 gene(s)	Overlapped CNVs	n/a
25	rs574452352	chr21:46493680-46493681	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	36 gene(s)	Overlapped CNVs	n/a
26	rs3834679	chr21:46493684-46493685	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	36 gene(s)	Overlapped CNVs	n/a
27	rs566632098	chr21:46493707-46493708	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	36 gene(s)	Overlapped CNVs	n/a
28	rs558454590	chr21:46493742-46493743	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	36 gene(s)	Overlapped CNVs	n/a
29	rs182654538	chr21:46493744-46493745	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	36 gene(s)	Overlapped CNVs	n/a
30	rs543973698	chr21:46493747-46493748	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	36 gene(s)	Overlapped CNVs	n/a
31	rs186656666	chr21:46493752-46493753	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	36 gene(s)	Overlapped CNVs	n/a
32	rs8131990	chr21:46493753-46493754	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	36 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
33	rs143025030	chr21:46493754-46493755	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	36 gene(s)	Overlapped CNVs	n/a
34	rs559322340	chr21:46493762-46493763	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	37 gene(s)	Overlapped CNVs	n/a
35	rs533113665	chr21:46493763-46493764	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	37 gene(s)	Overlapped CNVs	n/a
36	rs552078123	chr21:46493770-46493771	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	37 gene(s)	Overlapped CNVs	n/a
37	rs191809627	chr21:46493778-46493779	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	37 gene(s)	Overlapped CNVs	n/a
38	rs8132098	chr21:46493780-46493781	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	37 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs113028944	chr21:46493785-46493786	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	37 gene(s)	Overlapped CNVs	n/a
40	rs183987863	chr21:46493788-46493789	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	37 gene(s)	Overlapped CNVs	n/a
41	rs574147413	chr21:46493841-46493842	Active TSS Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	37 gene(s)	Overlapped CNVs	n/a
42	rs535548076	chr21:46493847-46493848	Active TSS Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	37 gene(s)	Overlapped CNVs	n/a
43	rs547475833	chr21:46493848-46493849	Active TSS Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	37 gene(s)	Overlapped CNVs	n/a
44	rs565693857	chr21:46493864-46493865	Active TSS Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	37 gene(s)	Overlapped CNVs	n/a
45	rs539412339	chr21:46493867-46493868	Active TSS Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	37 gene(s)	Overlapped CNVs	n/a
46	rs558195664	chr21:46493881-46493882	Active TSS Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	37 gene(s)	Overlapped CNVs	n/a
47	rs187170538	chr21:46493897-46493898	Active TSS Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	38 gene(s)	Overlapped CNVs	n/a
48	rs372040979	chr21:46493908-46493909	Active TSS Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	39 gene(s)	Overlapped CNVs	n/a
49	rs376925743	chr21:46493952-46493953	Active TSS Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	40 gene(s)	Overlapped CNVs	n/a
50	rs192318109	chr21:46493967-46493968	Active TSS Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	40 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:99)

Disease	PMID	Source
Glioblastoma multiforme	21080181	CNVD
Cancer	16751803	CNVD
Medulloblastoma	21979893	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
Down syndrome	17412756	CNVD
Down syndrome	17576883	CNVD
Acute promyelocytic leukemia	19109227	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	17387387	CNVD
Renal cell carcinoma	19461508	CNVD
Seminomas	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Prostate cancer	19156837	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
small cell lung cancer	20016488	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
lymphocytic leukemia	21291569	CNVD
Melanoma	18172304	CNVD
Autism	22958593	CNVD
Schizophrenia	22958593	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Wilms tumour	21544195	CNVD
Ewing''s sarcoma	17952124	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Acute myeloid leukemia	16864856	CNVD
Mental retardation	21031080	CNVD
Polymicrogyria	21031080	CNVD
periventricular nodular heterotopia	21031080	CNVD
Myelodysplastic syndrome	21606161	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Autism	18414403	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Breast cancer	21858162	CNVD
Neuroblastoma	18923191	CNVD
Breast cancer	17899364	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Prostate cancer	20473283	CNVD
Chordoma	18071362	CNVD
Glioblastoma multiforme	18628472	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-syndromic sensorineural hearing loss	17457615	CNVD
Ewing''s sarcoma	21437220	CNVD
Lung adenocarcinoma	17086460	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Ovarian neoplasms	16753589	CNVD
Non-small cell lung cancer	21829676	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Gastric adenocarcinoma	19115996	CNVD
Acute myeloid leukemia	21358987	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Prostate cancer	23341502	CNVD
Ovarian cancer	21720365	CNVD
Urothelial carcinoma	21177765	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	21251322	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Cholangiocarcinoma	16830362	CNVD
Down syndrome	17334655	CNVD
Neuroticism	17667963	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Autoimmune polyendocrine syndrome	18200029	CNVD
Prostate cancer	19363497	CNVD
Lung cancer	17086460	CNVD
Olfactory neuroblastoma	18408657	CNVD
Salivary gland adenoid cystic carcinoma	17545515	CNVD
Multiple myeloma	16616336	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Breast cancer	21509527	CNVD
Breast cancer	17142309	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	17426248	CNVD
Developmental delay	21147756	CNVD
Breast cancer	21364760	CNVD
Schizophrenia	23813976	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Williams-beuren syndrome	16826523	CNVD

Chromatin state (count:458 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:46475200-46493400	Weak transcription	Right Atrium	heart
2	chr21:46475400-46493200	Weak transcription	Spleen	Spleen
3	chr21:46484600-46493400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr21:46484800-46493200	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr21:46485600-46493600	Weak transcription	Aorta	Aorta
6	chr21:46487600-46493200	Enhancers	Fetal Muscle Trunk	muscle
7	chr21:46487800-46493200	Weak transcription	Fetal Heart	heart
8	chr21:46487800-46493600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr21:46488200-46493400	Weak transcription	Primary T cells from cord blood	blood
10	chr21:46489600-46493400	Enhancers	HSMMtube	muscle
11	chr21:46489800-46493200	Weak transcription	Hela-S3	cervix
12	chr21:46489800-46493400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr21:46490200-46493200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr21:46490200-46493200	Weak transcription	Esophagus	oesophagus
15	chr21:46490200-46493400	Weak transcription	NH-A	brain
16	chr21:46490400-46493200	Weak transcription	HMEC	breast
17	chr21:46490400-46493200	Weak transcription	NHEK	skin
18	chr21:46490400-46493400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr21:46490600-46493200	Weak transcription	Fetal Intestine Small	intestine
20	chr21:46491000-46493200	Enhancers	Muscle Satellite Cultured Cells	--
21	chr21:46491000-46493400	Weak transcription	Brain Substantia Nigra	brain
22	chr21:46491200-46493200	Weak transcription	Skeletal Muscle Male	skeletal muscle
23	chr21:46491600-46493200	Genic enhancers	Fetal Muscle Leg	muscle
24	chr21:46491600-46493600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
25	chr21:46492200-46493200	Enhancers	HUES6 Cell Line	embryonic stem cell
26	chr21:46492200-46493400	Enhancers	ES-I3 Cell Line	embryonic stem cell
27	chr21:46492400-46493000	Weak transcription	Skeletal Muscle Female	skeletal muscle
28	chr21:46492400-46493200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr21:46492400-46493600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr21:46492600-46493000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr21:46492600-46493400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr21:46492600-46493400	Enhancers	Breast Myoepithelial Primary Cells	Breast
33	chr21:46492600-46493400	Enhancers	Placenta	Placenta
34	chr21:46492600-46493600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr21:46492600-46493600	Flanking Active TSS	HSMM	muscle
36	chr21:46492800-46493000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr21:46492800-46493000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr21:46492800-46493200	Active TSS	Stomach Smooth Muscle	stomach
39	chr21:46492800-46493200	Enhancers	K562	blood
40	chr21:46492800-46493400	Enhancers	Fetal Lung	lung
41	chr21:46492800-46493600	Enhancers	H1 Cell Line	embryonic stem cell
42	chr21:46492800-46493600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr21:46492800-46493600	Weak transcription	Gastric	stomach
44	chr21:46492800-46493600	Enhancers	Pancreas	Pancrea
45	chr21:46493000-46493200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr21:46493000-46493200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr21:46493000-46493200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
48	chr21:46493000-46493200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr21:46493000-46493200	Enhancers	Brain Germinal Matrix	brain
50	chr21:46493000-46493200	Enhancers	Colonic Mucosa	Colon

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